Canonical Allele Identifier: CA368982368

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304809G>A (hg19) ; chr7:g.117664755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664755G>A , CM000669.2:g.117664755G>A	GRCh38
NC_000007.13:g.117304809G>A , CM000669.1:g.117304809G>A	GRCh37
NC_000007.12:g.117092045G>A	NCBI36
NG_016465.4:g.203972G>A , LRG_663:g.203972G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*240G>A	ENSP00000497673.2:n.*240G>A
ENST00000647978.2:c.*3745G>A	ENSP00000497658.1:n.*3745G>A
ENST00000649781.2:c.3848G>A	ENSP00000497203.1:p.Cys1283Tyr
ENST00000685018.2:c.*244G>A	ENSP00000510194.2:n.*244G>A
ENST00000687278.2:c.*684G>A	ENSP00000509593.2:n.*684G>A
ENST00000699585.1:c.*240G>A	ENSP00000514456.1:n.*240G>A
ENST00000699598.1:c.4031G>A	ENSP00000514467.1:p.Cys1344Tyr
ENST00000699599.1:c.*244G>A	ENSP00000514468.1:n.*244G>A
ENST00000699600.1:c.*692G>A	ENSP00000514469.1:n.*692G>A
ENST00000699601.1:c.*2406G>A	ENSP00000514470.1:n.*2406G>A
ENST00000699602.1:c.4025G>A	ENSP00000514471.1:p.Cys1342Tyr
ENST00000699604.1:c.*3855G>A	ENSP00000514472.1:n.*3855G>A
ENST00000699605.1:c.3605G>A	ENSP00000514473.1:p.Cys1202Tyr
ENST00000699606.1:n.2199G>A
ENST00000685018.1:c.895G>A	ENSP00000510194.1:n.895G>A
ENST00000687278.1:c.1818G>A	ENSP00000509593.1:n.1818G>A
ENST00000689011.1:c.613G>A
ENST00000003084.11:c.4031G>A MANE Select	ENSP00000003084.6:p.Cys1344Tyr
ENST00000647720.1:c.1481G>A
ENST00000649781.1:c.3848G>A	ENSP00000497203.1:p.Cys1283Tyr
ENST00000003084.10:c.4031G>A	ENSP00000003084.6:p.Cys1344Tyr
ENST00000426809.5:c.3941G>A	ENSP00000389119.1:p.Cys1314Tyr
ENST00000600166.1:c.157G>A
NM_000492.3:c.4031G>A , LRG_663t1:c.4031G>A	NP_000483.3:p.Cys1344Tyr
XM_011515751.1:c.4121G>A	XP_011514053.1:p.Cys1374Tyr
XM_011515752.1:c.4121G>A	XP_011514054.1:p.Cys1374Tyr
XM_011515753.1:c.3788G>A	XP_011514055.1:p.Cys1263Tyr
XM_011515754.1:c.3788G>A	XP_011514056.1:p.Cys1263Tyr
NM_000492.4:c.4031G>A MANE Select	NP_000483.3:p.Cys1344Tyr